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4 Primary immunodeficiency mutation databases
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title
4 Primary immunodeficiency mutation databases
(English)
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author
Ilkka Lappalainen
object named as
Ilkka Lappalainen
series ordinal
11
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Jennifer M Puck
series ordinal
13
object named as
Jennifer M Puck
0 references
Lennart Hammarström
series ordinal
6
object named as
Lennart Hammarström
0 references
Jean-Laurent Casanova
series ordinal
3
object named as
Jean-Laurent Casanova
0 references
Luigi D Notarangelo
series ordinal
12
object named as
Luigi D Notarangelo
0 references
Silvia Giliani
series ordinal
5
object named as
Silvia Giliani
0 references
Amos Etzioni
series ordinal
4
object named as
Amos Etzioni
0 references
Klaus Schwarz
series ordinal
17
object named as
Klaus Schwarz
0 references
Michael Hershfield
series ordinal
7
object named as
Michael S Hershfield
0 references
Aleksi Lähdesmäki
series ordinal
10
object named as
Aleksi Lähdesmäki
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author name string
Mauno Vihinen
series ordinal
1
0 references
Francisco X Arredondo-Vega
series ordinal
2
0 references
Paul G Heyworth
series ordinal
8
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Amy P Hsu
series ordinal
9
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Walter Reith
series ordinal
14
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Dirk Roos
series ordinal
15
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Richard F Schumacher
series ordinal
16
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Paolo Vezzoni
series ordinal
18
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Anna Villa
series ordinal
19
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Jouni Väliaho
series ordinal
20
0 references
C.I Edvard Smith
series ordinal
21
0 references
publication date
2001
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language of work
Advances in Genetics
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page(s)
103-188
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cites work
Structure of Cdc42 in complex with the GTPase-binding domain of the 'Wiskott-Aldrich syndrome' protein
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Activation of the NADPH oxidase involves the small GTP-binding protein p21rac1
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Transposition mediated by RAG1 and RAG2 and its implications for the evolution of the immune system
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CD40 Ligand Gene Defects Responsible for X-Linked Hyper-IgM Syndrome
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Impairment of mycobacterial immunity in human interleukin-12 receptor deficiency
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A causative relationship between mutant IFNgR1 alleles and impaired cellular response to IFNgamma in a compound heterozygous child
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Inherited interleukin 12 deficiency in a child with bacille Calmette-Guérin and Salmonella enteritidis disseminated infection
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Are anti-ribosomal P protein antibodies a type of anti-lymphocyte antibody?
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Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles
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The CD40 ligand, gp39, is defective in activated T cells from patients with X-linked hyper-IgM syndrome
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Identification of residues on CD40 and its ligand which are critical for the receptor-ligand interaction
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7 January 2021
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Analysis of gp39/CD40 interactions using molecular models and site-directed mutagenesis
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7 January 2021
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Hairpin coding end opening is mediated by RAG1 and RAG2 proteins
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Actin polymerization: Where the WASP stings
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T lymphocyte-directed gene therapy for ADA- SCID: initial trial results after 4 years.
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Two novel mutations in the MHC class II transactivator CIITA in a second patient from MHC class II deficiency complementation group A.
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Gene therapy in peripheral blood lymphocytes and bone marrow for ADA- immunodeficient patients
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A common set of factors control the expression of the MHC class II, invariant chain, and HLA-DM genes
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Molecular and biochemical characterization of JAK3 deficiency in a patient with severe combined immunodeficiency over 20 years after bone marrow transplantation: implications for treatment
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Epstein-Barr virus-negative boys with non-Hodgkin lymphoma are mutated in the SH2D1A gene, as are patients with X-linked lymphoproliferative disease (XLP)
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Crystal structure of a cytokine-binding region of gp130.
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7 January 2021
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inferred from DOI database lookup
Ineffective expression of CD40 ligand on cord blood T cells may contribute to poor immunoglobulin production in the newborn
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7 January 2021
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Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants
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Hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency.
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The V(D)J recombination activating protein RAG2 consists of a six-bladed propeller and a PHD fingerlike domain, as revealed by sequence analysis
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Immunological conditions of children with BCG disseminated infection
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New mutations, polymorphisms, and rare variants in the ATM gene detected by a novel SSCP strategy
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Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease
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Crossref
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7 January 2021
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inferred from DOI database lookup
Mice lacking the MHC class II transactivator (CIITA) show tissue-specific impairment of MHC class II expression
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Residual MHC class II expression on mature dendritic cells and activated B cells in RFX5-deficient mice.
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A novel receptor involved in T-cell activation
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Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene
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Diversity ofATM gene mutations detected in patients with ataxia-telangiectasia
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Crossref
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inferred from DOI database lookup
Mutations in btk in patients with presumed X-linked agammaglobulinemia
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Crossref
reference URL
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The cytosolic activating factors p47phox and p67phox have distinct roles in the regulation of electron flow in NADPH oxidase
1 reference
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Crossref
reference URL
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Cytochrome b-245 of the neutrophil superoxide-generating system contains two nonidentical hemes. Potentiometric studies of a mutant form of gp91phox
1 reference
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Jak-STAT signaling induced by the v-abl oncogene
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7 January 2021
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inferred from DOI database lookup
Severe mycobacterial and Salmonella infections in interleukin-12 receptor-deficient patients
1 reference
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Crossref
reference URL
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7 January 2021
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inferred from DOI database lookup
CD40 ligand expression deficiency in a female carrier of the X-linked hyper-IgM syndrome as a result of X chromosome lyonization
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
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7 January 2021
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inferred from DOI database lookup
Isolation of a novel gene mutated in Wiskott-Aldrich syndrome
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
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7 January 2021
based on heuristic
inferred from DOI database lookup
The mouse homolog of the Wiskott-Aldrich syndrome protein (WASP) gene is highly conserved and maps near the scurfy (sf) mutation on the X chromosome
1 reference
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reference URL
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7 January 2021
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inferred from DOI database lookup
The bare lymphocyte syndrome: molecular clues to the transcriptional regulation of major histocompatibility complex class II genes
1 reference
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reference URL
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7 January 2021
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inferred from DOI database lookup
The glycoprotein encoded by the X-linked chronic granulomatous disease locus is a component of the neutrophil cytochrome b complex
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
CD40 ligand mutations in X-linked immunodeficiency with hyper-IgM
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Partial Interferon‐γ Receptor Signaling Chain Deficiency in a Patient with Bacille Calmette‐Guérin andMycobacterium abscessusInfection
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
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7 January 2021
based on heuristic
inferred from DOI database lookup
Mutation in the signal-transducing chain of the interferon-gamma receptor and susceptibility to mycobacterial infection
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
RFXAP, a novel subunit of the RFX DNA binding complex is mutated in MHC class II deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cancer risks in A-T heterozygotes
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
RFX proteins, a novel family of DNA binding proteins conserved in the eukaryotic kingdom
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
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7 January 2021
based on heuristic
inferred from DOI database lookup
Correlation of granuloma structure with clinical outcome defines two types of idiopathic disseminated BCG infection
1 reference
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reference URL
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7 January 2021
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Integrins--the glue of life
1 reference
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7 January 2021
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inferred from DOI database lookup
Intramembrane Bis-Heme Motif for Transmembrane Electron Transport Conserved in a Yeast Iron Reductase and the Human NADPH Oxidase
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
European experience of bone-marrow transplantation for severe combined immunodeficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genetic and molecular definition of complementation group D in MHC class II deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The class II transactivator CIITA is a transcriptional integrator
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Host defense molecule polymorphisms influence the risk for immune-mediated complications in chronic granulomatous disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cyclosporin A inhibits CD40 ligand expression in T lymphocytes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Structure of the winged-helix protein hRFX1 reveals a new mode of DNA binding
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genotype-phenotype relationships in ataxia-telangiectasia and variants.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A p47-phox pseudogene carries the most common mutation causing p47-phox- deficient chronic granulomatous disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The role of CD40 ligand in costimulation and T-cell activation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Crystal structure of the interleukin-4/receptor alpha chain complex reveals a mosaic binding interface
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The identification and characterization of two promoters and the complete genomic sequence for the Wiskott-Aldrich syndrome gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Solution structure of the SH3 domain from Bruton's tyrosine kinase
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
GTP binding by class II transactivator: role in nuclear import
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
IL-2R gamma gene microdeletion demonstrates that canine X-linked severe combined immunodeficiency is a homologue of the human disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A perfect message: RNA surveillance and nonsense-mediated decay
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Neutrophil nicotinamide adenine dinucleotide phosphate oxidase assembly. Translocation of p47-phox and p67-phox requires interaction between p47-phox and cytochrome b558.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Influence of the C terminus of Wiskott-Aldrich syndrome protein (WASp) and the Arp2/3 complex on actin polymerization
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
DNA transposition by the RAG1 and RAG2 proteins: a possible source of oncogenic translocations
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
JAK3 maps to human chromosome 19p12 within a cluster of proto-oncogenes and transcription factors
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A novel leukocyte adhesion deficiency caused by expressed but nonfunctional beta2 integrins Mac-1 and LFA-1.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutation screening of the BTK gene in 56 families with X-linked agammaglobulinemia (XLA): 47 unique mutations without correlation to clinical course
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Abnormal regulation of interferon-gamma, interleukin-12, and tumor necrosis factor-alpha in human interferon-gamma receptor 1 deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Structure of the PH domain and Btk motif from Bruton's tyrosine kinase: molecular explanations for X-linked agammaglobulinaemia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guérin infection
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Partial interferon-gamma receptor 1 deficiency in a child with tuberculoid bacillus Calmette-Guérin infection and a sibling with clinical tuberculosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
In a novel form of IFN-gamma receptor 1 deficiency, cell surface receptors fail to bind IFN-gamma
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
2 A crystal structure of an extracellular fragment of human CD40 ligand
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
ATM associates with and phosphorylates p53: mapping the region of interaction
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Dual role of RAG2 in V(D)J recombination: catalysis and regulation of ordered Ig gene assembly
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Heterogeneous mutations in the beta subunit common to the LFA-1, Mac-1, and p150,95 glycoproteins cause leukocyte adhesion deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Sharing of the interleukin-2 (IL-2) receptor gamma chain between receptors for IL-2 and IL-4
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Structural basis for SH2D1A mutations in X-linked lymphoproliferative disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
156Pro-->Gln substitution in the light chain of cytochrome b558 of the human NADPH oxidase (p22-phox) leads to defective translocation of the cytosolic proteins p47-phox and p67-phox
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A point mutation in gp91-phox of cytochrome b558 of the human NADPH oxidase leading to defective translocation of the cytosolic proteins p47-phox and p67-phox
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Disturbed interaction of p21-rac with mutated p67-phox causes chronic granulomatous disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Familial disseminated atypical mycobacterial infection in childhood: a human mycobacterial susceptibility gene?
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Clinical spectrum of X-linked hyper-IgM syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Scar1 and the related Wiskott-Aldrich syndrome protein, WASP, regulate the actin cytoskeleton through the Arp2/3 complex
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Binding of Transforming Protein, P47 gag-crk , to a Broad Range of Phosphotyrosine-containing Proteins
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Constitutively Activated Jak-STAT Pathway in T Cells Transformed with HTLV-I
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
RAG-1-deficient mice have no mature B and T lymphocytes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Activation of the MHC class II transactivator CIITA by interferon-gamma requires cooperative interaction between Stat1 and USF-1
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Expression of MHC class II molecules in different cellular and functional compartments is controlled by differential usage of multiple promoters of the transactivator CIITA.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
RFX-B is the gene responsible for the most common cause of the bare lymphocyte syndrome, an MHC class II immunodeficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infection
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The p67(phox) activation domain regulates electron flow from NADPH to flavin in flavocytochrome b(558)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A novel mutation in the CYBB gene resulting in an unexpected pattern of exon skipping and chronic granulomatous disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
CD40Lbase: a database of CD40L gene mutations causing X-linked hyper-IgM syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The Wiskott-Aldrich syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
RAG-1 and RAG-2, adjacent genes that synergistically activate V(D)J recombination
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Gene therapy for severe combined immunodeficiency caused by adenosine deaminase deficiency: improved retroviral vectors for clinical trials
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Jaks, STATs, cytokine signal transduction, and immunoregulation: are we there yet?
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Class II MHC genes: a model gene regulatory system with great biologic consequences
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
X-linked Wiskott-Aldrich syndrome in a girl
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Defective MHC class II expression in an MHC class II deficiency patient is caused by a novel deletion of a splice donor site in the MHC class II transactivator gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular analysis of an MHC class II deficiency patient reveals a novel mutation in the RFX5 gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Fatal Disseminated Mycobacterium smegmatis Infection in a Child with Inherited Interferon Receptor Deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Crystal structures of the XLP protein SAP reveal a class of SH2 domains with extended, phosphotyrosine-independent sequence recognition
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Structure of the enabled/VASP homology 1 domain-peptide complex: a key component in the spatial control of actin assembly
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
IL2RGbase: a database of gamma c-chain defects causing human X-SCID
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Letter: Fatal infectious mononucleosis in familial lymphohistiocytosis.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Absence of MHC class II gene expression in a patient with a single amino acid substitution in the class II transactivator protein CIITA.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
In vitro bactericidal capacity of human polymorphonuclear leukocytes: diminished activity in chronic granulomatous disease of childhood
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutation of unique region of Bruton's tyrosine kinase in immunodeficient XID mice
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The molecular basis of MHC class II deficiency and transcriptional control of MHC class II gene expression.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genomic sequence, organization, and chromosomal localization of human JAK3.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
MUTbase: maintenance and analysis of distributed mutation databases.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Leukocyte adhesion deficiency mimicking Hirschsprung disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Listeria monocytogenes and recurrent mycobacterial infections in a child with complete interferon-gamma-receptor (IFNgammaR1) deficiency: mutational analysis and evaluation of therapeutic options
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cloning the gene for an inherited human disorder--chronic granulomatous disease--on the basis of its chromosomal location
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Interaction of IL-2R beta and gamma c chains with Jak1 and Jak3: implications for XSCID and XCID
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Interleukin-2 receptor gamma chain: a functional component of the interleukin-4 receptor
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutation of Jak3 in a patient with SCID: essential role of Jak3 in lymphoid development.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The RAG1/RAG2 complex constitutes a 3' flap endonuclease: implications for junctional diversity in V(D)J and transpositional recombination
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease. Contribution of genotype to phenotype
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A single ataxia telangiectasia gene with a product similar to PI-3 kinase
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The V(D)J recombination activating gene, RAG-1.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Prenatal diagnosis of JAK3 deficient SCID
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
RAG mutations in human B cell-negative SCID.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
WASPbase: a database of WAS- and XLT-causing mutations
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
X-linked lymphoproliferative disease: twenty-five years after the discovery
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Stimulated neutrophils from patients with autosomal recessive chronic granulomatous disease fail to phosphorylate a Mr-44,000 protein
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cytochrome b-245 is a flavocytochrome containing FAD and the NADPH-binding site of the microbicidal oxidase of phagocytes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Interaction between ATM protein and c-Abl in response to DNA damage
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Structural organization of the gene for CD40 ligand: molecular analysis for diagnosis of X-linked hyper-IgM syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
RAG-2-deficient mice lack mature lymphocytes owing to inability to initiate V(D)J rearrangement
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular basis for X-linked immunodeficiencies
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Wiskott-Aldrich syndrome protein-deficient mice reveal a role for WASP in T but not B cell activation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Regional localization of CD18, the beta-subunit of the cell surface adhesion molecule LFA-1, on human chromosome 21 by in situ hybridization
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A novel DNA-binding regulatory factor is mutated in primary MHC class II deficiency (bare lymphocyte syndrome)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Complementation cloning of an MHC class II transactivator mutated in hereditary MHC class II deficiency (or bare lymphocyte syndrome)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Atypical X-Linked Severe Combined Immunodeficiency Due to Possible Spontaneous Reversion of the Genetic Defect in T Cells
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Studies of the expression of the Wiskott-Aldrich syndrome protein
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular cloning of rat JAK3, a novel member of the JAK family of protein tyrosine kinases
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A structural model for the nucleotide binding domains of the flavocytochrome b-245 beta-chain
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The X-linked chronic granulomatous disease gene codes for the beta-chain of cytochrome b-245
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Colocalization of X-linked agammaglobulinemia and X-linked immunodeficiency genes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Expression of Janus kinase 3 in human endothelial and other non-lymphoid and non-myeloid cells
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
BTKbase: XLA-mutation registry
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
BTKbase: a database of XLA-causing mutations. International Study Group.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
BTKbase, mutation database for X-linked agammaglobulinemia (XLA).
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations of the humanBTK gene coding for bruton tyrosine kinase in X-linked agammaglobulinemia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
BTK, the tyrosine kinase affected in X-linked agammaglobulinemia.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Structural basis of SH2 domain mutations in X-linked agammaglobulinemia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Missense mutations affecting a conserved cysteine pair in the TH domain of Btk.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Partial V(D)J recombination activity leads to Omenn syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutation of RFXAP, a regulator of MHC class II genes, in primary MHC class II deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Analysis of mutations and chromosomal localisation of the gene encoding RFX5, a novel transcription factor affected in major histocompatibility complex class II deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Clustering of missense mutations in the ataxia-telangiectasia gene in a sporadic T-cell leukaemia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Analysis of glycosylation sites on gp91phox, the flavocytochrome of the NADPH oxidase, by site-directed mutagenesis and translation in vitro
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Sequence of human adenosine deaminase cDNA including the coding region and a small intron
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Complete sequence and structure of the gene for human adenosine deaminase
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mice lacking the transcription factor CIITA--a second look
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
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A pre-transition-state mimic of an enzyme: X-ray structure of adenosine deaminase with bound 1-deazaadenosine and zinc-activated water
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Atomic structure of adenosine deaminase complexed with a transition-state analog: understanding catalysis and immunodeficiency mutations
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Involvement of the Jak-3 Janus kinase in signalling by interleukins 2 and 4 in lymphoid and myeloid cells
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular characterization of leukocyte adhesion deficiency in six patients
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Growing Y-junction carbon nanotubes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Constitutive activation of different Jak tyrosine kinases in human T cell leukemia virus type 1 (HTLV-1) tax protein or virus-transformed cells
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Targeted disruption of ATM leads to growth retardation, chromosomal fragmentation during meiosis, immune defects, and thymic lymphoma
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
SH2D1A mutation analysis for diagnosis of XLP in typical and atypical patients
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cloning and chromosomal mapping of bovine interleukin-2 receptor gamma gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The CIS/JAB family: novel negative regulators of JAK signaling pathways
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Biosynthesis of the phagocyte NADPH oxidase cytochrome b558. Role of heme incorporation and heterodimer formation in maturation and stability of gp91phox and p22phox subunits
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Antigen receptor-induced activation and cytoskeletal rearrangement are impaired in Wiskott-Aldrich syndrome protein-deficient lymphocytes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular and cellular aspects of X-linked agammaglobulinemia.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0065-2660%2801%2943005-7
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome
1 reference
stated in
COCI
retrieved
5 October 2024
reference URL
https://opencitations.net/index/api/v1/citations/10.1073/PNAS.96.25.14412
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DOI
10.1016/S0065-2660(01)43005-7
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